PFKM
PFKM (phosphofructokinase, muscle) is the muscle-type isozyme of ATP-dependent 6-phosphofructokinase, which catalyses the first committing step of glycolysis. It is also known as PFK-1, PPP1R122 and PFKX, and the encoded protein is a subunit of the mammalian tetrameric phosphofructokinase. Browse Assay Genie's current range of PFKM research reagents below, or read on for the biology behind the target.
PFKM catalyses the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate using ATP. This reaction is the first committing step of glycolysis, which makes phosphofructokinase a central point in the pathway. The enzyme is found in the cytoplasm. Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. They act as subunits of the mammalian tetramer, and the composition of the tetramer varies with tissue type. The PFKM gene encodes the muscle-type isozyme, so work with the PFKM protein often sits alongside studies of the other two subunits.
PFKM belongs to the phosphofructokinase type A (PFKA) family, within the ATP-dependent PFK group I subfamily and the eukaryotic two-domain clade 'E' sub-subfamily. HGNC places the gene in the phosphofructokinase family. It also lists the gene among the protein phosphatase 1 regulatory subunits and among the microRNA protein coding host genes. Alternatively spliced transcript variants have been described for the PFKM gene. Mouse and rat both carry an ortholog named Pfkm.
Mutations in PFKM have been associated with glycogen storage disease type VII, also known as Tarui disease. The gene has also been called phosphofructokinase, polypeptide X (PFKX), and carries the aliases PFK-1 and PPP1R122. Researchers studying glycolytic flux, muscle energy metabolism or inherited metabolic disorders use PFKM antibody and PFKM ELISA kit tools to examine the enzyme.
PFKM catalyses the first committing step of glycolysis, making it a key enzyme for studying how cells commit fructose 6-phosphate to the pathway.
Mutations in PFKM are associated with glycogen storage disease type VII (Tarui disease), linking the gene to inherited disorders of carbohydrate metabolism.
Muscle, liver and platelet isozymes form tetramers whose makeup varies by tissue, so PFKM is relevant to comparisons of phosphofructokinase subunit composition.
Alternatively spliced transcript variants of the PFKM gene have been described, which supports work on how the muscle-type isozyme is produced and regulated.
PFKM is the muscle-type subunit of phosphofructokinase. It catalyses the ATP-dependent phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate, the first committing step of glycolysis. The enzyme acts in the cytoplasm as part of a tetramer whose composition varies by tissue.
PFKM stands for phosphofructokinase, muscle. Aliases include PFK-1, PPP1R122 and PFKX, and the previous gene name was phosphofructokinase, polypeptide X. UniProt names the protein ATP-dependent 6-phosphofructokinase, muscle type. Alternatively spliced transcript variants have been described.
Mutations in PFKM are associated with glycogen storage disease type VII, also called Tarui disease. Mouse and rat each have an ortholog named Pfkm. Check the datasheet of any product for its validated reactivity.
Other phosphofructokinase isozymes and glycolytic enzymes with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt P08237; product specifications from Assay Genie datasheets.